Incidental Mutation 'R7496:Dhdds'
| ID |
581066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhdds
|
| Ensembl Gene |
ENSMUSG00000012117 |
| Gene Name |
dehydrodolichyl diphosphate synthase |
| Synonyms |
3222401G21Rik |
| MMRRC Submission |
045569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133696339-133728229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133698565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 256
(Q256H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012262]
[ENSMUST00000100472]
[ENSMUST00000102552]
[ENSMUST00000102553]
[ENSMUST00000105885]
[ENSMUST00000105886]
[ENSMUST00000105887]
[ENSMUST00000105889]
[ENSMUST00000105893]
[ENSMUST00000130464]
[ENSMUST00000136327]
[ENSMUST00000144668]
|
| AlphaFold |
Q99KU1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012262
|
| SMART Domains |
Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
256 |
1.5e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100472
|
| SMART Domains |
Protein: ENSMUSP00000098040
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
2 |
88 |
1.67e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102552
|
| SMART Domains |
Protein: ENSMUSP00000099612
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
2 |
86 |
4.6e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102553
|
| SMART Domains |
Protein: ENSMUSP00000099613
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
2 |
86 |
4.6e-41 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105885
|
| SMART Domains |
Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
149 |
5.2e-42 |
PFAM |
|
Pfam:Prenyltransf
|
145 |
222 |
1.4e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105886
|
| SMART Domains |
Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
109 |
9.8e-32 |
PFAM |
|
Pfam:Prenyltransf
|
104 |
217 |
6.2e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105887
AA Change: Q256H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: Q256H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
255 |
6.4e-79 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105889
|
| SMART Domains |
Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
256 |
5.6e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105893
|
| SMART Domains |
Protein: ENSMUSP00000101513
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
12 |
92 |
1.13e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123234
|
| SMART Domains |
Protein: ENSMUSP00000120795
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
28 |
108 |
1.13e-35 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130464
|
| SMART Domains |
Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
1 |
54 |
1.8e-8 |
PFAM |
|
Pfam:Prenyltransf
|
50 |
99 |
2.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136327
|
| SMART Domains |
Protein: ENSMUSP00000114704
Gene: ENSMUSG00000003038
| Domain | Start | End | E-Value | Type |
|---|
|
HMG17
|
2 |
86 |
1.99e-36 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144668
|
| SMART Domains |
Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
256 |
1.5e-84 |
PFAM |
|
| Meta Mutation Damage Score |
0.1390 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
| Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
| Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
| Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
| Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
| Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
| Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
| Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
| Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
| Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
| Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
probably damaging |
Het |
|
| Other mutations in Dhdds |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Dhdds
|
APN |
4 |
133,727,571 (GRCm39) |
splice site |
probably benign |
|
|
IGL01566:Dhdds
|
APN |
4 |
133,718,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03024:Dhdds
|
APN |
4 |
133,710,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Dhdds
|
APN |
4 |
133,710,182 (GRCm39) |
missense |
probably benign |
|
|
LCD18:Dhdds
|
UTSW |
4 |
133,697,674 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0622:Dhdds
|
UTSW |
4 |
133,721,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Dhdds
|
UTSW |
4 |
133,698,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Dhdds
|
UTSW |
4 |
133,707,523 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5444:Dhdds
|
UTSW |
4 |
133,698,447 (GRCm39) |
nonsense |
probably null |
|
|
R5780:Dhdds
|
UTSW |
4 |
133,724,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Dhdds
|
UTSW |
4 |
133,724,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Dhdds
|
UTSW |
4 |
133,721,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Dhdds
|
UTSW |
4 |
133,698,441 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7696:Dhdds
|
UTSW |
4 |
133,724,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Dhdds
|
UTSW |
4 |
133,724,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8187:Dhdds
|
UTSW |
4 |
133,727,679 (GRCm39) |
start gained |
probably benign |
|
|
R8951:Dhdds
|
UTSW |
4 |
133,719,857 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9502:Dhdds
|
UTSW |
4 |
133,707,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Dhdds
|
UTSW |
4 |
133,727,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTTGGACTCGCTCTTC -3'
(R):5'- CCCAGTGAGTGTTTTGTCCCAG -3'
Sequencing Primer
(F):5'- CTCTTCCCGTTTGGTGGAGAG -3'
(R):5'- TTGTCCCAGACAGTAGACAATGTAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation